Department of Ophthalmology, Bascom Palmer Eye Institute, University of Miami Miller School of Medicine, Miami, Florida; and.
Departments of Bioengineering, and.
Retina. 2022 Sep 1;42(9):1645-1654. doi: 10.1097/IAE.0000000000003515.
Swept-source optical coherence tomography angiography (SS-OCTA) was used to analyze Bruch membrane (BM) and choriocapillaris (CC) abnormalities in undiagnosed family members with Sorsby macular dystrophy (SMD).
In a family with SMD ( TIMP3 Tyr191Cys), SS-OCTA imaging was performed using the 6 × 6 mm scan patter and previously validated algorithms to detect abnormalities in BM and the CC, as well as the presence of reticular pseudodrusen and macular neovascularization. Genetic analyses were performed for TIMP3 mutations.
Of eight family members, two were previously diagnosed with SMD and six were asymptomatic. SS-OCTA imaging of the 33-year-old proband revealed type 1 macular neovascularization in the left eye and bilateral reticular pseudodrusen, thickening of BM, CC thinning, and increases in CC flow deficits. A TIMP3 mutation was confirmed. His niece, despite having no clinical evidence of SMD, showed BM thickening and CC thinning on SS-OCTA. A TIMP3 mutation was confirmed. The proband's younger nephew and niece also carried the TIMP3 mutation without clinical evidence of SMD. Two additional members had normal examinations, unremarkable SS-OCTA findings, and no TIMP3 mutation.
Swept-source optical coherence tomography angiography imaging can detect BM and CC abnormalities in vivo in subjects unaware of their TIMP3 status in a family with SMD.
应用扫频源光相干断层扫描血管造影术（SS-OCTA）分析未经诊断的 Sorsby 黄斑营养不良（SMD）家系中不明原因的 Bruch 膜（BM）和脉络膜毛细血管（CC）异常。
在一个 SMD（TIMP3 Tyr191Cys）家系中，使用 6×6mm 扫描模式和先前验证的算法进行 SS-OCTA 成像，以检测 BM 和 CC 异常、网状假性血管病变和黄斑新生血管的存在。对 TIMP3 突变进行基因分析。
8 名家庭成员中，2 名此前被诊断为 SMD，6 名无症状。33 岁先证者的 SS-OCTA 成像显示左眼 1 型黄斑新生血管和双侧网状假性血管病变，BM 增厚，CC 变薄，CC 血流不足增加。证实存在 TIMP3 突变。他的侄女尽管没有 SMD 的临床证据，但 SS-OCTA 显示 BM 增厚和 CC 变薄。证实存在 TIMP3 突变。先证者的弟弟和妹妹也携带 TIMP3 突变，但没有 SMD 的临床证据。另外两名成员的检查正常，SS-OCTA 未见明显异常，也未发现 TIMP3 突变。
扫频源光相干断层扫描血管造影术可以在 SMN 家系中检测到 TIMP3 状态未知的患者体内的 BM 和 CC 异常。
